rs121917918

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121917918(A;A)

Make rs121917918(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

166058651

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917918
dbSNP (classic)	rs121917918
ClinGen	rs121917918
ebi	rs121917918
HLI	rs121917918
Exac	rs121917918
Gnomad	rs121917918
Varsome	rs121917918
LitVar	rs121917918
Map	rs121917918
PheGenI	rs121917918
Biobank	rs121917918
1000 genomes	rs121917918
hgdp	rs121917918
ensembl	rs121917918
geneview	rs121917918
scholar	rs121917918
google	rs121917918
pharmgkb	rs121917918
gwascentral	rs121917918
openSNP	rs121917918
23andMe	rs121917918
SNPshot	rs121917918
SNPdbe	rs121917918
MSV3d	rs121917918
GWAS Ctlg	rs121917918

Max Magnitude

0

ClinVar
Risk	rs121917918(A;A)
Alt	rs121917918(A;A)
Reference	Rs121917918(G;G)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus not provided
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 not provided
Reversed	1
HGVS	NC_000002.11:g.166915161C>T
CLNSRC	HGMD UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059400.5, RCV000150095.4, RCV000188829.3,